TBX3


TBX3

T-box 3 (ulnar mammary syndrome), also known as TBX3, is a human gene.cite web | title = Entrez Gene: TBX3 T-box 3 (ulnar mammary syndrome)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6926| accessdate = ]

PBB_Summary
section_title =
summary_text = This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This protein is a transcriptional repressor and is thought to play a role in the anterior/posterior axis of the tetrapod forelimb. Mutations in this gene cause ulnar-mammary syndrome, affecting limb, apocrine gland, tooth, hair, and genital development. Alternative splicing of this gene results in three transcript variants encoding different isoforms; however, the full length nature of one variant has not been determined.cite web | title = Entrez Gene: TBX3 T-box 3 (ulnar mammary syndrome)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6926| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Li QY, Newbury-Ecob RA, Terrett JA, "et al." |title=Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family. |journal=Nat. Genet. |volume=15 |issue= 1 |pages= 21–9 |year= 1997 |pmid= 8988164 |doi= 10.1038/ng0197-21
*cite journal | author=Bamshad M, Lin RC, Law DJ, "et al." |title=Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome. |journal=Nat. Genet. |volume=16 |issue= 3 |pages= 311–5 |year= 1997 |pmid= 9207801 |doi= 10.1038/ng0797-311
*cite journal | author=Bamshad M, Le T, Watkins WS, "et al." |title=The spectrum of mutations in TBX3: Genotype/Phenotype relationship in ulnar-mammary syndrome. |journal=Am. J. Hum. Genet. |volume=64 |issue= 6 |pages= 1550–62 |year= 1999 |pmid= 10330342 |doi=
*cite journal | author=He M, Wen L, Campbell CE, "et al." |title=Transcription repression by Xenopus ET and its human ortholog TBX3, a gene involved in ulnar-mammary syndrome. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=96 |issue= 18 |pages= 10212–7 |year= 1999 |pmid= 10468588 |doi=
*cite journal | author=Carlson H, Ota S, Campbell CE, Hurlin PJ |title=A dominant repression domain in Tbx3 mediates transcriptional repression and cell immortalization: relevance to mutations in Tbx3 that cause ulnar-mammary syndrome. |journal=Hum. Mol. Genet. |volume=10 |issue= 21 |pages= 2403–13 |year= 2002 |pmid= 11689487 |doi=
*cite journal | author=Brummelkamp TR, Kortlever RM, Lingbeek M, "et al." |title=TBX-3, the gene mutated in Ulnar-Mammary Syndrome, is a negative regulator of p19ARF and inhibits senescence. |journal=J. Biol. Chem. |volume=277 |issue= 8 |pages= 6567–72 |year= 2002 |pmid= 11748239 |doi= 10.1074/jbc.M110492200
*cite journal | author=Lingbeek ME, Jacobs JJ, van Lohuizen M |title=The T-box repressors TBX2 and TBX3 specifically regulate the tumor suppressor gene p14ARF via a variant T-site in the initiator. |journal=J. Biol. Chem. |volume=277 |issue= 29 |pages= 26120–7 |year= 2002 |pmid= 12000749 |doi= 10.1074/jbc.M200403200
*cite journal | author=Coll M, Seidman JG, Müller CW |title=Structure of the DNA-bound T-box domain of human TBX3, a transcription factor responsible for ulnar-mammary syndrome. |journal=Structure |volume=10 |issue= 3 |pages= 343–56 |year= 2002 |pmid= 12005433 |doi=
*cite journal | author=Carlson H, Ota S, Song Y, "et al." |title=Tbx3 impinges on the p53 pathway to suppress apoptosis, facilitate cell transformation and block myogenic differentiation. |journal=Oncogene |volume=21 |issue= 24 |pages= 3827–35 |year= 2002 |pmid= 12032820 |doi= 10.1038/sj.onc.1205476
*cite journal | author=Sasaki G, Ogata T, Ishii T, "et al." |title=Novel mutation of TBX3 in a Japanese family with ulnar-mammary syndrome: implication for impaired sex development. |journal=Am. J. Med. Genet. |volume=110 |issue= 4 |pages= 365–9 |year= 2002 |pmid= 12116211 |doi= 10.1002/ajmg.10447
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Wollnik B, Kayserili H, Uyguner O, "et al." |title=Haploinsufficiency of TBX3 causes ulnar-mammary syndrome in a large Turkish family. |journal=Ann. Genet. |volume=45 |issue= 4 |pages= 213–7 |year= 2003 |pmid= 12668170 |doi=
*cite journal | author=Ota T, Suzuki Y, Nishikawa T, "et al." |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285
*cite journal | author=Fan W, Huang X, Chen C, "et al." |title=TBX3 and its isoform TBX3+2a are functionally distinctive in inhibition of senescence and are overexpressed in a subset of breast cancer cell lines. |journal=Cancer Res. |volume=64 |issue= 15 |pages= 5132–9 |year= 2004 |pmid= 15289316 |doi= 10.1158/0008-5472.CAN-04-0615
*cite journal | author=Gerhard DS, Wagner L, Feingold EA, "et al." |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504
*cite journal | author=Lomnytska M, Dubrovska A, Hellman U, "et al." |title=Increased expression of cSHMT, Tbx3 and utrophin in plasma of ovarian and breast cancer patients. |journal=Int. J. Cancer |volume=118 |issue= 2 |pages= 412–21 |year= 2006 |pmid= 16049973 |doi= 10.1002/ijc.21332
*cite journal | author=Yang L, Cai CL, Lin L, "et al." |title=Isl1Cre reveals a common Bmp pathway in heart and limb development. |journal=Development |volume=133 |issue= 8 |pages= 1575–85 |year= 2006 |pmid= 16556916 |doi= 10.1242/dev.02322
*cite journal | author=Lee HS, Cho HH, Kim HK, "et al." |title=Tbx3, a transcriptional factor, involves in proliferation and osteogenic differentiation of human adipose stromal cells. |journal=Mol. Cell. Biochem. |volume=296 |issue= 1-2 |pages= 129–36 |year= 2007 |pmid= 16955224 |doi= 10.1007/s11010-006-9306-4
*cite journal | author=Olsen JV, Blagoev B, Gnad F, "et al." |title=Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. |journal=Cell |volume=127 |issue= 3 |pages= 635–48 |year= 2006 |pmid= 17081983 |doi= 10.1016/j.cell.2006.09.026
*cite journal | author=Mommersteeg MT, Hoogaars WM, Prall OW, "et al." |title=Molecular pathway for the localized formation of the sinoatrial node. |journal=Circ. Res. |volume=100 |issue= 3 |pages= 354–62 |year= 2007 |pmid= 17234970 |doi= 10.1161/01.RES.0000258019.74591.b3

External links

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Look at other dictionaries:

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